MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia Identifying variants within genes known to be associated with methylmalonic...

MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

ALCU - Overview: Aluminum/Creatinine Ratio, Urine

Measurement of aluminum concentration as a part of assessing for aluminum exposure

RSARS - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2), Molecular Detection, Varies

Rapid diagnostic test for detection of COVID-19 illness due to SARS-CoV-2 This test should be requested only on patients meeting current clinical and/or epidemiologic criteria defined by federal, state, or local public health directives:...

MSUSC - Overview: Branched-Chain Amino Acids, Self-Collect, Blood Spot

Monitoring patients with maple syrup urine disease using specimens collected at home